Variant ID | 29391 |
---|---|
Entrez Gene ID | 80705 |
Gene | TSGA10 (GeneCards) |
Location | hg19 2:99681512-99681512
hg38 2:99065049-99065049 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | MiSeq |
Mutation(HGVS format) | NC_000002.11:g.99681512 G>A (Genome Assembly: hg19) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 243199373 |
MAF in gnomAD genome (version 2.0.1) | 0 |
---|---|
EIGEN score | 0.4438 |
CADD Raw score (version 1.3) | 7.427034 (Deleterious) |
FATHMM raw prediction score | 0.89169 (Tolerated) |
SIFT score | 0.006 (Deleterious) |
LRT score | 0.009 (Tolerated) |
MutationTaster score | 0.872 (Deleterious) |
MutatioinAssessor score | 1.24 (Tolerated) |
PROVEAN score | -3.51 (Deleterious) |
MetaSVM score | -1.159 (Tolerated) |
MetaLR score | 0.043 (Tolerated) |
MCAP score | 0.012 (Tolerated) |
FitCons score | 0.554 (Highly Significant p < 0.003 ) |
Genomic Evolutionary Rate Profiling (GERP) score | 5.3 |
PhyloP score based on multiple alignment of 100 vertebrates | 4.836 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.481 |
Deleterious probability by iFish2 | 0.6727 (Deleterious) |
Deleterious probability by DeFine | 0.9636 (Deleterious) |
Entrez Gene ID | 80705 (NCBI Gene) |
---|---|
Official Gene Symbol | TSGA10 (GeneCards) |
Number of variants in TSGA10 in this database | 3 (view all the variants) |
Full name | testis specific 10 |
Band | 2q11.2 |
Other IDs | Vega: OTTHUMG00000130637 OMIM: 607166 HGNC: HGNC:14927 Ensembl: ENSG00000135951 |
Other names | CT79, CEP4L, SPGF26 |
Summary | None |
Individual ID | 28714951.67 (view all the variants in this individual) |
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Pubmed ID | 28714951 |
Whose mosaic mutation | Patient |
Phenotype | 3 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
OMIM ID | 209850 |
Pubmed ID | 28714951 |
---|---|
Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
Journal | Nat Neurosci |
Publication date | 2017.07 |
Disease | Autism Spectrum Disorders |
Incidence | 0.01 |
Number of cases | cases of unknown sex: 376; |